Prenatal Diagnosis Center

The
Prenatal Diagnosis Center is able to carry out all the diagnoses that are available today in the prenatal period (immunological, biochemical, contagious, cytogenetic and molecular) on chorionic villi, amniotic fluid and blood from the umbilical cord.

This allows prospective parents to obtain absolutely up-to-date information on any eventual problems right from the first weeks of foetal development, and, as a result of this, quickly arrange for therapeutic solutions aimed at protecting the health of the unborn child and guaranteeing him/her the best conditions of life.

The diagnostic activity of the Prenatal Diagnosis Centre takes place within two principal areas of prenatal checks:

Traditional prenatal diagnosis
This consists of carrying out a cytogenetic analysis on the foetus for the most common chromosome defects that may be present at birth, such as
trisomy 21 syndrome or Down’s syndrome, or less common aneuploids, such as those affecting
chromosomes 18, 13, X, Y or other chromosomes, both by determining the
foetal karyotypes with cell culture that takes about 15 days, or in 24/48 hours, using a special molecular cytogenetic examination, known as
fluorescent in-situ hybridisation (FISH).

This last procedure has recently been replaced by a molecular evaluation technique of the chromosomic aneuploids, more advanced and completely automated, called
quantitative fluorescent-polymerase chain reaction (QF-PCR).

Molecular Prenatal Diagnosis
This involves carrying out on the foetus, as well a traditional cytogenetic exam, further checks through analysis of the DNA for gene mutations associated with the most frequent and serious genetic illnesses.

Patients, therefore, have the possibility of obtaining, in a very short time, a multiple genetic screening, aimed at the diagnosis of serious illnesses, such as
cystic fibrosis, fragile X chromosome syndrome (mental retardation), Beta thalassaemia, congenital deafness, Duchenne’s muscular dystrophy, myotonic dystrophy, and many other genetic diseases.

GENOMA Group

GENOMA is a private molecular genetics laboratory, internationally renowned for its leadership in molecular diagnostics and Preimplantation Genetic Diagnosis (PGD) and for its pioneering work in infertility and genetics.

As a pioneer in genomic testing and the commercialization of new diagnostic technologies, GENOMA represents one of the world's largest, fully integrated, specialized provider of genetics services.